Canonical Allele Identifier: CA386292436

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1339851890
• gnomAD v2: 12-102147229-T-C
• gnomAD v3: 12-101753451-T-C
• gnomAD v4: 12-101753451-T-C
• MyVariant Identifiers: chr12:g.102147229T>C (hg19) ; chr12:g.101753451T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753451T>C , CM000674.2:g.101753451T>C	GRCh38
NC_000012.11:g.102147229T>C , CM000674.1:g.102147229T>C	GRCh37
NC_000012.10:g.100671360T>C	NCBI36
NG_021243.1:g.82417A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3523A>G MANE Select	ENSP00000299314.7:p.Met1175Val
ENST00000299314.11:c.3523A>G	ENSP00000299314.7:p.Met1175Val
ENST00000549738.5:c.421A>G	ENSP00000450161.1:n.421A>G
NM_024312.4:c.3523A>G	NP_077288.2:p.Met1175Val
XM_011538731.1:c.3442A>G	XP_011537033.1:p.Met1148Val
XM_011538731.2:c.3442A>G	XP_011537033.1:p.Met1148Val
XM_017019961.1:c.3307A>G	XP_016875450.1:p.Met1103Val
XM_017019962.2:c.2296A>G	XP_016875451.1:p.Met766Val
NM_024312.5:c.3523A>G MANE Select	NP_077288.2:p.Met1175Val